ClinVar for Gene (Select 585) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3133166	NM_033028.5(BBS4):c.481G>A (p.Ala161Thr)	BBS4 (A161T)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3056121	NM_033028.5(BBS4):c.1053G>A (p.Leu351=)	BBS4	Single nucleotide variant (synonymous variant +1 more)	BBS4-related condition	GLikely benign
Select item 3051767	NM_033028.5(BBS4):c.77-210_77-209del	BBS4	Deletion (intron variant)	BBS4-related condition	GLikely benign
Select item 3040854	NM_033028.5(BBS4):c.1479_1481del (p.Lys493_Pro494delinsAsn)	BBS4	Deletion (inframe_indel +1 more)	BBS4-related condition	GUncertain significance
Select item 3033438	NM_033028.5(BBS4):c.110G>A (p.Trp37Ter)	BBS4 (W37*)	Single nucleotide variant (5 prime UTR variant +2 more)	BBS4-related condition	GLikely pathogenic
Select item 3032626	NM_033028.5(BBS4):c.1044G>T (p.Leu348=)	BBS4	Single nucleotide variant (synonymous variant +1 more)	BBS4-related condition	GLikely benign
Select item 3031616	NM_033028.5(BBS4):c.865-12TC[3]	BBS4	Microsatellite (intron variant)	BBS4-related condition	GLikely benign
Select item 3031391	NM_033028.5(BBS4):c.865-9C>G	BBS4	Single nucleotide variant (intron variant)	BBS4-related condition	GLikely benign
Select item 3029578	NM_033028.5(BBS4):c.693T>C (p.Tyr231=)	BBS4	Single nucleotide variant (synonymous variant +2 more)	BBS4-related condition	GLikely benign
Select item 3029338	NM_033028.5(BBS4):c.1451-8G>A	BBS4	Single nucleotide variant (intron variant)	BBS4-related condition	GLikely benign
Select item 3028943	NM_033028.5(BBS4):c.948C>A (p.Thr316=)	BBS4	Single nucleotide variant (synonymous variant +1 more)	BBS4-related condition	GLikely benign
Select item 3019508	NM_033028.5(BBS4):c.1224T>C (p.Asn408=)	BBS4	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 3017356	NM_033028.5(BBS4):c.1191G>A (p.Glu397=)	BBS4	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 3015356	NM_033028.5(BBS4):c.76+16C>T	BBS4	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3013555	NM_033028.5(BBS4):c.864+7G>A	BBS4	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3012682	NM_033028.5(BBS4):c.1101G>T (p.Leu367=)	BBS4	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 3012117	NM_033028.5(BBS4):c.984T>C (p.Ser328=)	BBS4	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 3010881	NM_033028.5(BBS4):c.642+20C>T	BBS4	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3007920	NM_033028.5(BBS4):c.712-13G>A	BBS4	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3005931	NM_033028.5(BBS4):c.216C>T (p.Val72=)	BBS4	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome	GLikely benign
Select item 3004271	NM_033028.5(BBS4):c.24+18C>T	BBS4	Single nucleotide variant (non-coding transcript variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 3003556	NM_033028.5(BBS4):c.223T>C (p.Leu75=)	BBS4	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome	GLikely benign
Select item 3002853	NM_033028.5(BBS4):c.1450+11A>G	BBS4	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3002369	NM_033028.5(BBS4):c.460-15T>C	BBS4	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3001408	NM_033028.5(BBS4):c.342G>A (p.Leu114=)	BBS4	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2991317	NM_033028.5(BBS4):c.1248+18T>G	BBS4	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2985030	NM_033028.5(BBS4):c.48T>G (p.Thr16=)	BBS4	Single nucleotide variant (synonymous variant +2 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2982528	NM_033028.5(BBS4):c.1036+19G>A	BBS4	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2981411	NM_033028.5(BBS4):c.927T>C (p.Asn309=)	BBS4	Single nucleotide variant (non-coding transcript variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2974535	NM_033028.5(BBS4):c.789T>C (p.Ala263=)	BBS4	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2971427	NM_033028.5(BBS4):c.333-9C>A	BBS4	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2969169	NM_033028.5(BBS4):c.25-16A>G	BBS4	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2963599	NM_033028.5(BBS4):c.507G>A (p.Leu169=)	BBS4	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2962217	NM_033028.5(BBS4):c.156+14A>G	BBS4	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2960789	NM_033028.5(BBS4):c.921G>C (p.Leu307=)	BBS4	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2956726	NM_033028.5(BBS4):c.1036+11T>C	BBS4	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2955906	NM_033028.5(BBS4):c.18C>A (p.Val6=)	BBS4	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2955520	NM_033028.5(BBS4):c.1254G>C (p.Val418=)	BBS4	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2918706	NM_033028.5(BBS4):c.1554G>A (p.Glu518=)	BBS4	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2917229	NM_033028.5(BBS4):c.1557A>G (p.Lys519=)	BBS4	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2916690	NM_033028.5(BBS4):c.642+15_642+16del	BBS4	Deletion (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2916566	NM_033028.5(BBS4):c.9G>A (p.Glu3=)	BBS4	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2912838	NM_033028.5(BBS4):c.267C>T (p.Leu89=)	BBS4	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2897867	NM_033028.5(BBS4):c.587+16T>A	BBS4	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2896963	NM_033028.5(BBS4):c.24+9C>T	BBS4	Single nucleotide variant (non-coding transcript variant +1 more)	Bardet-Biedl syndrome	GBenign
Select item 2894484	NM_033028.5(BBS4):c.1107-17A>G	BBS4	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2889752	NM_033028.5(BBS4):c.858T>C (p.Tyr286=)	BBS4	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2889071	NM_033028.5(BBS4):c.1263T>G (p.Ala421=)	BBS4	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2885805	NM_033028.5(BBS4):c.1451-20A>G	BBS4	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2884198	NM_033028.5(BBS4):c.1347C>G (p.Thr449=)	BBS4	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2872355	NM_033028.5(BBS4):c.332+16del	BBS4	Deletion (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2872066	NM_033028.5(BBS4):c.1249-5A>C	BBS4	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2869609	NM_033028.5(BBS4):c.588-9_588-8del	BBS4	Deletion (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2866371	NM_033028.5(BBS4):c.864+20_864+23del	BBS4	Deletion (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2865153	NM_033028.5(BBS4):c.48T>A (p.Thr16=)	BBS4	Single nucleotide variant (synonymous variant +2 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2863917	NM_033028.5(BBS4):c.1249-11G>A	BBS4	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2863110	NM_033028.5(BBS4):c.237A>G (p.Leu79=)	BBS4	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2861198	NM_033028.5(BBS4):c.210C>A (p.Ile70=)	BBS4	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2859022	NM_033028.5(BBS4):c.221-14C>T	BBS4	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2858350	NM_033028.5(BBS4):c.1287G>A (p.Gln429=)	BBS4	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2855276	NM_033028.5(BBS4):c.459+15T>A	BBS4	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2855001	NM_033028.5(BBS4):c.459+13A>G	BBS4	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2854912	NM_033028.5(BBS4):c.24+11A>T	BBS4	Single nucleotide variant (non-coding transcript variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2851981	NM_033028.5(BBS4):c.656dup (p.Lys220fs)	BBS4 (K48fs +1 more)	Duplication (frameshift variant +2 more)	Bardet-Biedl syndrome	GPathogenic
Select item 2851272	NM_033028.5(BBS4):c.617C>A (p.Thr206Lys)	BBS4 (T34K +1 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 2849475	NM_033028.5(BBS4):c.24+2T>G	BBS4	Single nucleotide variant (non-coding transcript variant +1 more)	Bardet-Biedl syndrome	GLikely pathogenic
Select item 2849052	NM_033028.5(BBS4):c.643-19T>C	BBS4	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2847377	NM_033028.5(BBS4):c.360C>T (p.Ala120=)	BBS4	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2845907	NM_033028.5(BBS4):c.642+13_642+14del	BBS4	Microsatellite (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2845740	NM_033028.5(BBS4):c.186_187del (p.Gln63fs)	BBS4 (Q63fs)	Deletion (5 prime UTR variant +2 more)	Bardet-Biedl syndrome	GPathogenic
Select item 2844112	NM_033028.5(BBS4):c.1092A>T (p.Ala364=)	BBS4	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2843659	NM_033028.5(BBS4):c.1234_1248+5del	BBS4	Deletion (splice donor variant)	Bardet-Biedl syndrome	GLikely pathogenic
Select item 2843563	NM_033028.5(BBS4):c.1106+7A>G	BBS4	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2843356	NM_033028.5(BBS4):c.1451-14del	BBS4	Deletion (intron variant)	Bardet-Biedl syndrome	GBenign
Select item 2842391	NM_033028.5(BBS4):c.157-1G>T	BBS4	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome	GPathogenic
Select item 2840114	NM_033028.5(BBS4):c.1107-13C>T	BBS4	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2839446	NM_033028.5(BBS4):c.6T>G (p.Ala2=)	BBS4	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2838724	NM_033028.5(BBS4):c.258C>A (p.Ser86=)	BBS4	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2837363	NM_033028.5(BBS4):c.865-5C>T	BBS4	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2835817	NM_033028.5(BBS4):c.76+19G>C	BBS4	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2834777	NM_033028.5(BBS4):c.1296G>A (p.Glu432=)	BBS4	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2834059	NM_033028.5(BBS4):c.1203dup (p.Val402fs)	BBS4 (V230fs +2 more)	Duplication (frameshift variant +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 2833586	NM_033028.5(BBS4):c.1106+11T>G	BBS4	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2833126	NM_033028.5(BBS4):c.66G>A (p.Arg22=)	BBS4	Single nucleotide variant (synonymous variant +2 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2832761	NM_033028.5(BBS4):c.157-6T>C	BBS4	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2831563	NM_033028.5(BBS4):c.885A>C (p.Arg295=)	BBS4	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2829337	NM_033028.5(BBS4):c.1249-15C>A	BBS4	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2828708	NM_033028.5(BBS4):c.458del (p.Lys153fs)	BBS4 (K153fs)	Deletion (frameshift variant +2 more)	Bardet-Biedl syndrome	GPathogenic
Select item 2826884	NM_033028.5(BBS4):c.406-16T>C	BBS4	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2823713	NM_033028.5(BBS4):c.1536A>G (p.Thr512=)	BBS4	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2820509	NM_033028.5(BBS4):c.750G>A (p.Gly250=)	BBS4	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2818171	NM_033028.5(BBS4):c.570C>G (p.Val190=)	BBS4	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2817508	NM_033028.5(BBS4):c.221-20T>C	BBS4	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2817366	NM_033028.5(BBS4):c.1450+12C>G	BBS4	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2816733	NM_033028.5(BBS4):c.57A>G (p.Gln19=)	BBS4	Single nucleotide variant (synonymous variant +2 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2816084	NM_033028.5(BBS4):c.333-20G>C	BBS4	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2810062	NM_033028.5(BBS4):c.333-10T>C	BBS4	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2808664	NM_033028.5(BBS4):c.1140_1147del (p.Leu381fs)	BBS4 (L209fs +2 more)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 2806897	NM_033028.5(BBS4):c.744C>T (p.Thr248=)	BBS4	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2806154	NM_033028.5(BBS4):c.588-4G>T	BBS4	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign

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